Author

Elena Moschuring-Alieva

3 papers indexed here

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Review Open access Aug 2026

From a Recurrent FGFR3 Variant to Isoform-Selective Kinase Inhibition: A Critical Appraisal of Targeted Therapy in Paediatric Achondroplasia

Achondroplasia arises almost invariably from a single recurrent gain-of-function variant in the gene encoding fibroblast growth factor receptor 3, and has therefore become a reference case for genotype-directed drug development in paediatric rare disease. Within five years the field has moved from a single approved sub...

S. Bittmann, E. Luchter, Elena Moschuring-Alieva · Asian Journal of Pediatric R... · 0 citations

Review Open access Aug 2026

Early Prenatal Detection of Fetal Genetic Mutations and Epigenetic Alterations: A Critical Appraisal of Liquid Biopsy Methodologies and Paediatric Implications

This critical narrative review evaluates the state of knowledge on early prenatal detection of fetal genetic variants and epigenetic alterations through maternal blood sampling, and appraises the paediatric implications of an expanding prenatal detection frontier.

S. Bittmann, E. Luchter, Elena Moschuring-Alieva · Asian Journal of Pediatric R... · 0 citations

Review Open access Aug 2026

Severe Epilepsy Syndromes in Childhood: A Comprehensive Review of Clinical Features, Etiologies, and Advancing Therapeutic Landscapes

This critical narrative review synthesises evidence on the clinical features, aetiologies, and therapeutic options for these syndromes, and evaluates the strength, consistency, and limitations of that evidence rather than cataloguing individual studies.

S. Bittmann, E. Luchter, Elena Moschuring-Alieva · Asian Journal of Pediatric R... · 0 citations